A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11367349



Internal ID3757080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21103635..21109140hg38UCSC Ensembl
Innerchr4:21104135..21108640hg38UCSC Ensembl
Outerchr4:21102635..21110140hg38UCSC Ensembl
chr4:21105258..21110763hg19UCSC Ensembl
Innerchr4:21105758..21110263hg19UCSC Ensembl
Outerchr4:21104258..21111763hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg385506
hg195506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599858
Supporting Variants
SamplesHG03388
Known GenesKCNIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11367349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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